ChromosOmics - Database





                                                  - CHROMOSOME  20 -                                                

Cases without
clinical findings
Cases with
clinical findings

most common clinical findings acc to Orphanet an this page
(variable clinical features)

 - DD = developmental delay (including intellectual disability) -
           late onset possible
- growth retardation
- microcephaly
- DYS = dysmorphic facial features
- retinal / macular pigmentation
- seizures - late onset possible - see also Ref 2095
- also possible: dermatological features (= dispigmentation incl. café-au-lait spots)

- theoretically to be expected: 
+ 20p13 microdeletion syndrome in case of terminal deletion (Orphanet 313781)
 + 20q13 microdeletion syndrome in case of terminal deletion (Orphanet 261311)

Ref 848 suggests correlation of cells with r(20) and age of onset of seizures
Ref 2147 suggests management of ring chromosome 20 syndrome
Cases without or very mild clinical findings (O)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype test
methods
 		clinical symptoms
 		Reference
RC/O-
20-
p1?3q13.?3/
1-1a, 1-1b and 1-1c
 		female/
54y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XX,r(20)[31]/46,XX[67]/ 45,XX,-20[1.5]/46,XX,dr(20)[0.5] 		GTG normal, but two affetced children – r(20 in 66 to 88%
 {798}
RC/O-
20-
p1?3q13.?3/
1-2a and 1-2b 		female/
24y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[10]/46,XX[90] 		GTG seizures at 24y but normal intelligence
daughter and son with 40% of r(20) and early onset of seizures and DD		 {840}
RC/O-
20-
p1?3q13.?3/
1-3
 		female/
31y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism: 46,XX,r(20)[29%] 		GTG no seizures, IQ normal {863, case 1}
RC/O-
20-
p1?3q13.?3/
1-4
 		male/
21y 		PBL ?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[8%] 		GTG seizures at 21y
otherwise normal		 {865, case 1; 867, case 2}
RC/O-
20-
p1?3q13.?3/
1-5

female/

44y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[9%] 		GTG seizures at 44y
otherwise normal		 {865, case 5; 867, case 5}
RC/O-
20-
p1?3q13.?3/
1-6

female/

12y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[24%] 		GTG seizures at 12y
otherwise normal		 {865, case 33; 867, case 13}
RC/O-
20-
p1?3q13.?3/
1-7

n.a./

postnatal 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures,
otherwise normal		 {1321, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
20-
p1?3q13.?3/
1-8a and 1-8b

female/
postnatal

 PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)/46,XX 		GTG no details on her but diagnosed only after child with r(20) in all cells was born and had DD and seizures
 {1857 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
20-
p1?3q13.?3/
1-9a, 1-9b and 1-9c

female/

23y 		PBL ?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)/?46,XX 		GTG seizures at 23y; two affected children - maleand female
 {1901 - provided by Dr. I. Lurie, Maryland, USA}
RC/O-
20-
p1?3q13.?3/
1-10

male/
postnatal

 PBL ?dn

46,XY,r(20)(p1?3q13.?3)

 GTG oligozoospermia {1930, 1 case - provided by Dr. I. Lurie, Maryland, USA}

 
Cases with clinical findings (W)

case no.
 		gender/
age at diagnosis
 		studied
material
 		de novo/
inherited
 		karyotype
 		test
methods
 		general clinical symptoms
 		Reference
RC/W-
20-
p1?3q13.?3/
1-1

female/
26y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:
46,XX,r(20)[22]/46,XX[78] 		solid staining DD, seizures {778, one case}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-2

male/
0.5y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:
46,XY,r(20)[94]/46,XY[6] 		solid staining DD, growth retardation, microcephaly, DYS, seizures {789}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-3

male/
7y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:
46,XY,r(20)[46]/45,XY,-20[4] 		GTG DD, growth retardation, microcephaly, seizures {790}
RC/W-
20-
p1?3q13.?3/
1-4

male/
11y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:
46,XY,r(20)[43]/46,XY[57] 		GTG DD, growth retardation, DYS, seizures {791}
RC/W-
20-
p1?3q13.?3/
1-5

female/
21y

BM

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:
46,XX,r(20)[90]/46,XX[9]/45,XX-20[1] 		GTG DD, seizures {792}
RC/W-
20-
p1?3q13.?3/
1-6 to 1-10

n.a./
n.a.

PBL

?dn

 46,XN,r(20)(p1?3q13.?3) GTG DD, growth retardation, microcephaly, seizures {793}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-11

male/
1y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:
46,XY,r(20)[21]/46,XY[3] 		GTG DD, growth retardation, microcephaly, seizures {794}
RC/W-
20-
p1?3q13.?3/
1-12

male/
27y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG DD, seizures {779, one case}
RC/W-
20-
p1?3q13.?3/
1-13

female/
newborn

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG DD, growth retardation, microcephaly, seizures {795}
RC/W-
20-
p1?3q13.?3/
1-14

female/
6y

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG   seizures {788}
RC/W-
20-
p1?3q13.?3/
1-15

male/
15y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG  DD, growth retardation, microcephaly, seizures {801}
RC/W-
20-
p1?3q13.?3/
1-16

male/
0.5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG  DD, seizures {808, case 2, 809}
RC/W-
20-
p1?3q13.?3/
1-17

female/
~2y

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG  DD, seizures {810}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-18

female/
5y

PBL

dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[48]/46,XX[52] 		GTG seizures at 5y; afterwards DD {814, case 2}
RC/W-
20-
p1?3q13.?3/
1-19

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {815, case 1}
RC/W-
20-
p1?3q13.?3/
1-20

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {815, case 2}
RC/W-
20-
p1?3q13.?3/
1-21

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {818}
RC/W-
20-
p1?3q13.?3/
1-22

female/
11y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 11y; afterwards DD {819, case 1,
 823; 834}
RC/W-
20-
p1?3q13.?3/
1-23

female/
3y

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures at 3y; afterwards DD {819, case 2; 823; 834}
RC/W-
20-
p1?3q13.?3/
1-24

male/
11y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG DD from 11y onwards {819, case 3; 823; 834}
RC/W-
20-
p1?3q13.?3/
1-25

female/
8y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 8y; afterwards DD {819, case 4;
823; 834}
RC/W-
20-
p1?3q13.?3/
1-26

female/
6y

PBL

dn

46,XX,r(20)(p1?3q13.?3)

 GTG DD, seizures from birth, microcephaly, growth retardation, mild DYS {821}
RC/W-
20-
p1?3q13.?3/
1-27

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {824; 1216}
RC/W-
20-
p1?3q13.?3/
1-28

male/
10y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG  seizures at 10y; afterwards DD {826; 1217}
RC/W-
20-
p1?3q13.?3/
1-29

male/
5y

PBL

dn

 46,XY,r(20)(p1?3q13.?3) GTG DD, seizures; DYS, micrognathia {829}
RC/W-
20-
p1?3q13.?3/
1-30 to 1-43

9 male, 5 female/
n.a.

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG  seizures {827; 831}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-44

female/
4y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 4y; afterwards DD {830, case 2}
RC/W-
20-
p1?3q13.?3/
1-45

male/
8y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG DD, seizures {830, case 3}
RC/W-
20-
p1?3q13.?3/
1-46

male/
5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures at 5y; afterwards DD {830, case 4}
RC/W-
20-
p1?3q13.?3/
1-47

male/
6y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures {830, case 5}
RC/W-
20-
p1?3q13.?3/
1-48 to 1-49

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {831, 2 cases}
RC/W-
20-
p1?3q13.?3/
1-50

female/
17y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[13]/46,XX[84]/ 45,XX,-20[3]

GTG seizures at 17y; afterwards DD {832}
RC/W-
20-
p1?3q13.?3/
1-51

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {833, 1 case}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-52

male/
newborn

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures, hypotonia at birth; at ~2y DD, DYS, microcephaly {837, case 0}
RC/W-
20-
p1?3q13.?3/
1-53

male/
6y

PBL

?dn

46,XY,r(20)(p1?3q13.?3) dynamic mosaicism:

46,XY,r(20)[43%] 		GTG seizures at 6y; afterwards DD {837, case 1}
RC/W-
20-
p1?3q13.?3/
1-54

male/
5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)
dynamic mosaicism:

46,XY,r(20)[77%]

 GTG seizures at 5y; afterwards DD {837, case 2}
RC/W-
20-
p1?3q13.?3/
1-55

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)
dynamic mosaicism:

46,XX,r(20)[40%] 		GTG seizures at 5y; afterwards DD {837, case 3}
RC/W-
20-
p1?3q13.?3/
1-56

male/
5y

PBL

?dn

46,XY,r(20)(p1?3q13.?3) dynamic mosaicism:

46,XY,r(20)[80%] 		GTG seizures at 5y; afterwards DD {837, case 4}
RC/W-
20-
p1?3q13.?3/
1-57

male/
8y

PBL

?dn

46,XY,r(20)(p1?3q13.?3) dynamic mosaicism:

46,XY,r(20)[22%] 		GTG seizures at 8y; afterwards DD {837, case 5}
RC/W-
20-
p1?3q13.?3/
1-58

male/
9y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures {838}
RC/W-
20-
p1?3q13.?3/
1-59

male/
4y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures; died due to a seizure attack at 13y {841}
RC/W-
20-
p1?3q13.?3/
1-60

female/
7.5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG

seizures at ~7.5y; afterwards DD;

dispigmentation

unproportionate growth (delay lof one half body side) 		{842, case 1; ?844}
RC/W-
20-
p1?3q13.?3/
1-61

female/
~10y

PBL
fibro

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[53]/46,XX[47] 		GTG seizures at ~10y {842, case 2; ?844}
RC/W-
20-
p1?3q13.?3/
1-62

female/
~35y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures {851}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-63

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[53]/46,XX[47] 		GTG seizures at 5y {852}
RC/W-
20-
p1?3q13.?3/
1-64

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[12]/46,XX[38] 		GTG seizures at 9y; afterwards DD {853; 1917; 1918, 1 case}
RC/W-
20-
p1?3q13.?3/
1-65

female/
4y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 4y; afterwards DD {855, case 1}
RC/W-
20-
p1?3q13.?3/
1-66

male/
8y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3) GTG seizures at 8y; afterwards DD {855, case 2}
RC/W-
20-
p1?3q13.?3/
1-67

female/
66y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[18]/45,XX,-20[4]/ 46,XX,t(3;4)[8]/46,XX[70] 		GTG seizures {855, case 4}
RC/W-
20-
p1?3q13.?3/
1-68

male/
4y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[13%] 		GTG seizures at 4y; afterwards DD {855, case 5}
RC/W-
20-
p1?3q13.?3/
1-69

male/
5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[13%] 		GTG mild DYS; seizures at 5y; afterwards DD {855, case 6}
RC/W-
20-
p1?3q13.?3/
1-70

female/
17y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)
dynamic mosaicism

 GTG seizures {856}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-71

male/
5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[25]/46,XY[75] 		GTG seizures at 5y; afterwards DD {857, case 1}
RC/W-
20-
p1?3q13.?3/
1-72

male/
10y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[40]/46,XY[60] 		GTG seizures at 10y; afterwards DD {857, case 3}
RC/W-
20-
p1?3q13.?3/
1-73

female/
6y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[33%] 		GTG seizures at 6y; afterwards DD {863, case 2}
RC/W-
20-
p1?3q13.?3/
1-74

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[53%] 		GTG seizures at 9y; afterwards DD {863, case 3}
RC/W-
20-
p1?3q13.?3/
1-75

female/
10y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[42%] 		GTG seizures at 10y; afterwards DD {865, case 2; 867, case 1}
RC/W-
20-
p1?3q13.?3/
1-76

female/
12y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[7%] 		GTG seizures at 12y; afterwards DD {865, case 3; 867, case 4}
RC/W-
20-
p1?3q13.?3/
1-77

male/
17y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[71%] 		GTG seizures at 17y; afterwards DD {865, case 4; 867, case 3}
RC/W-
20-
p1?3q13.?3/
1-78

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[40%] 		GTG seizures at 9y; afterwards DD {865, case 6; 867, case 7
RC/W-
20-
p1?3q13.?3/
1-79

female/
14y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[34%] 		GTG seizures at 14y; afterwards DD {865, case 7; 867, case 6}
RC/W-
20-
p1?3q13.?3/
1-80

female/
17y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[15%] 		GTG seizures at 17y; afterwards DD {865, case 8; 867, case 8}
RC/W-
20-
p1?3q13.?3/
1-81

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[60%] 		GTG seizures at 9y; afterwards DD {865, case 10; 867, case 11}
RC/W-
20-
p1?3q13.?3/
1-82

female/
prenatal

AF/
PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[30%] 		GTG seizures, DYS {865, case 11; 867, case 10}
RC/W-
20-
p1?3q13.?3/
1-83

male/
12y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[55%] 		GTG seizures at 12y; afterwards DD {865, case 12; 867, case 12}
RC/W-
20-
p1?3q13.?3/
1-84

female/
6y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[15%] 		GTG DYS, seizures {867, case 9}
RC/W-
20-
p1?3q13.?3/
1-85

male/
17y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG seizures {868, case 1}
RC/W-
20-
p1?3q13.?3/
1-86

male/
6.5y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG seizures {868, case 2}
RC/W-
20-
p1?3q13.?3/
1-87

female/
newborn

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures, DYS {868, case 3}
RC/W-
20-
p1?3q13.?3/
1-88

female/
23y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures, DYS {1904 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-89 to 1-101

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {874, 12 cases}
RC/W-
20-
p1?3q13.?3/
1-102

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[30%] 		GTG seizures at 5y; afterwards DD {876, case 2}
RC/W-
20-
p1?3q13.?3/
1-103

female/
51.y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[80%] 		GTG seizures at 1.5y; afterwards DD {876, case 3}
RC/W-
20-
p1?3q13.?3/
1-104

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[6%] 		GTG seizures at 5y; afterwards DD {876, case 9}
RC/W-
20-
p1?3q13.?3/
1-105

male/
14y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[5%] 		GTG seizures at 14y; afterwards DD {876, case 12}
RC/W-
20-
p1?3q13.?3/
1-106

female/
9y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[25%] 		GTG seizures at 9y; afterwards DD {876, case 15}
RC/W-
20-
p1?3q13.?3/
1-107

male/
8y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[16%] 		GTG seizures at 8y; afterwards DD {876, case 19}
RC/W-
20-
p1?3q13.?3/
1-108

male/
2y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[25%] 		GTG seizures at 2y; afterwards DD {876, case 21}
RC/W-
20-
p1?3q13.?3/
1-109

male/
11y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[14%] 		GTG seizures at 11y; afterwards DD {876, case 23}
RC/W-
20-
p1?3q13.?3/
1-110

female/
4y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[41%] 		GTG seizures at 4y; afterwards DD {876, case 24}
RC/W-
20-
p1?3q13.?3/
1-111

female/
17y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG seizures at 17y {878}
RC/W-
20-
p1?3q13.?3/
1-112

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {879}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-113

female/
~0.5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG DD, seizures {884, case 2}
RC/W-
20-
p1?3q13.?3/
1-114

female/
11y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[88%] 		GTG DD, seizures {886, case 1}
RC/W-
20-
p1?3q13.?3/
1-115

male/
6y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[63%] 		GTG seizures, DD {886, case 2}
RC/W-
20-
p1?3q13.?3/
1-116

male/
7y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG seizures, DD {887}
RC/W-
20-
p1?3q13.?3/
1-117 to 1-159

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {889} 42 cases
RC/W-
20-
p1?3q13.?3/
1-160

female/
10y

PBL

?dn

46,XX,t(1;12)(q21;q11),
r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[14]/46,XX[9] 		GTG seizures, DD {890}
RC/W-
20-
p1?3q13.?3/
1-161

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[68%] 		GTG
 		seizures at 5y; afterwards DD {892, case 2}
RC/W-
20-
p1?3q13.?3/
1-162

male/
11y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[48%] 		GTG seizures at 11y {892, case 3}
RC/W-
20-
p1?3q13.?3/
1-163

female/
6y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[83%] 		GTG seizures at 6y; afterwards DD {892, case 4}
RC/W-
20-
p1?3q13.?3/
1-164

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {861, 1 case}
RC/W-
20-
p1?3q13.?3/
1-165

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG seizures
 {843, 1 case}
RC/W-
20-
p1?3q13.?3/
1-166

female/
4.5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[17%] 		GTG
 growth retardation, mild DYS, seizures; DD {892, case 1}
RC/W-
20-
p1?3q13.?3/
1-167

male/
6y

PBL

dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:
46,XX,r(20)[5-95]/45,XX,-20[5-95] 		GTG
 DD, seizures {1196}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-168 to 1-214

male and female/
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1221, 47 cases; 1905; 1906 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-215

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1236}
RC/W-
20-
p1?3q13.?3/
1-216

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1239}
RC/W-
20-
p1?3q13.?3/
1-217

male/
7.5y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1793 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-218

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
OGM
 DD, seizures {1842, 1 case- provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-219 to 1-232

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)
details in paper

 GTG
aCGH
 DD, seizures {1849, 14 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-233

male/
9y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)
dynamic mosaicism:
46,XY,r(20)[44]/46,XY[61]

 GTG
aCGH
 DD, seizures {1852 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-234 to 1-245

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
aCGH
 DD, seizures {1853, 12 cases - provided by Dr. I. Lurie, Maryland, USA}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-246

female/
28y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)
dynamic mosaicism:
46,XX,r(20)[25]/46,XX[75]

 GTG
 seizures {1855 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-247

female/
newborn

PBL
fibros

?dn

46,XX,r(20)(p1?3q13.?3)
no mosaic in any studied tissue

 GTG
 DD, DYS, micrognathia, heart defect, seizures at 8m {1856 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-248

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1858; 1864; 1871;  1 case each - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-249 to 1-251

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1861, 3 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-252 to 1-256

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1864, 5 cases, 1871, 1900 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-257

female/
12y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1866 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-258

female/
10y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1867 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-259

female/
15y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)
dynamic mosaicism:
46,XX,r(20) in 23% of cell

 GTG
 DD, seizures {1868 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-260

female/
postnatal

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD,  seizures {1870 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-261 to 1-299

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1872, 39 case; 1880, 39 cases; 1899, 27 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-300 to 1-313

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1873, 14 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-314

female/
4y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD,  seizures {1874 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-315

male/
7y

PBL
fibros

?dn

46,XY,r(20)(p1?3q13.?3)
dynamic mosaicism:
46,XX,r(20) in 10% of blood cells and 'majorty' of fibros

 GTG
 DD, seizures, dispigmentation {1875 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-316 to 1-317

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1876, 2 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-318

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1879 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-319

n.a./
prenatal

AF

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG n.a. {1881 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-320

male/
postnatal

 PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG DD, seizures {1882 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-321

female/
32y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD,  seizures {1883 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-322 to 1-325

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1887; 1888; 1890, 6 cases each - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-326

female/
2.5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD, DYS, microcephaly {1889 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-327

male/
postnatal

 PBL

?dn

46,XXY,r(20)(p1?3q13.?3)

 GTG Klinefelter syndrome and DD, seizures {1891 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-328

male/
6y

 PBL

?dn

46,XY,r(20)(p1?3q13.?3)
dynamic mosaicism:
46,XY,r(20)[8]/46,XY[12]

 GTG DD, seizures, hypotonia {1897; 1903 brother of reported patient  - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-329

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD,  seizures {1907 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-330 to 1-331

n.a./
23 and 25y

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD,  seizures {1908 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-332 to 1-333

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD,  seizures {1909 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-334

female/
postnatal

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD,  seizures {1912 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-335

female/
41y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD,  seizures {1915 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-336 to 1-337

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1917, 1918, 2 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-338

female/
14y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1919 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-339 to 1-344

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1920, 6 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-345

male/
7y

 PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG DD, seizures {1923 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-346

female/
38y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1925 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-347 to 1-430

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1926 and 1937, 84 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-431

male/
10y

 PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG DD, seizures, {1928 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-432

female/
5y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1936 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-433 to 1-446

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {1938, 14 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-447

male/
20y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {2092 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p1?3q13.?3/
1-448

female/
6y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {2097}
RC/W-
20-
p1?3q13.?3/
1-449 to 1-450

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
OGM
 DD, seizures {2116, 2 cases}
RC/W-
20-
p1?3q13.?3/
1-451

n.a./
postnatal

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {2145}
RC/W-
20-
p1?3q13.?3/
1-452

n.a./
postnatal

PBL

?dn

46,XN,r(20)(p1?3q13.?3)

 GTG
 DD, seizures {2416}
RC/W-
20-
p1?3q13.?3/
1-453

male/
~2.5y

PBL

?dn

 46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[6]/46,XY[94] 		GTG seizures at 2.5y; afterwards DD {857, case 2}
RC/W-
20-
p1?3q13.?3/
1-454

female/
8y

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG  DD, seizures {811}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-455

female/
~6y

PBL

?dn

 46,XX,r(20)(p1?3q13.?3) GTG  DD, DYS, seizures {812; 437, case 2}
literature not accessible
RC/W-
20-
p1?3q13.?3/
1-456

male/
7y

PBL

?dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[23%] 		GTG seizures at 7y; afterwards DD {876, case 16}
RC/W-
20-
p1?3q13.?3/
1-457

female/
11y

PBL

?dn

46,XX,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XX,r(20)[12%] 		GTG seizures at 11y; afterwards DD {876, case 18}
RC/W-
20-
p1?3q13.?3/
1-458

male/
8

PBL

dn

46,XY,r(20)(p1?3q13.?3)

dynamic mosaicism:

46,XY,r(20)[50]/46,XY[50] 		GTG seizures at 8y; afterwards DD {814, case 1}
RC/W-
20-
p1?3q13.?3/
2-1

female/
prenatal

PBL

?dn

46,XX,r(20)(p1?3q13.?3)
dynamic mosaicism: 46,XX,r(20)/46,XX
in one amnion culture also
47,XX,+i(20p) in 25% of cells (articfact?)

 GTG
 AMA; no DYS; TOP {1851 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13/
1-1

male/
~1.3y

PBL

?dn

 46,XY,r(20)(p13q13) GTG DD, growth retardation, microcephaly, seizures {796}
RC/W-
20-
p13q13/
1-2

n.a./
4y

PBL

?dn

 46,XN,r(20)(p13q13)
dynamic mosaicism 		GTG DD, seizures {797}
literature not accessible
RC/W-
20-
p13q13/
1-3

female/
11y

PBL

?dn

46,XX,r(20)(p13q13)

dynamic mosaicism: 46,XX,r(20)/46,XX 		GTG DD, seizures {802}
RC/W-
20-
p13q13/
1-4

female/
12y

PBL

dn

46,XX,r(20)(p13q13)

dynamic mosaicism:

46,XX,r(20)[20]/46,XX[80] 		GTG seizures at 12y; afterwards DD {828, case 1; 1878}
RC/W-
20-
p13q13/
1-5

female/
15y

PBL

?dn

46,XX,r(20)(p13q13)

dynamic mosaicism:

46,XX,r(20)[20]/46,XX[80] 		GTG seizures at 15y; afterwards DD {828, case 2; 1878}
RC/W-
20-
p13q13/
1-6

female/
10y

PBL

?dn

46,XX,r(20)(p13q13)

dynamic mosaicism:

46,XX,r(20)[30]/46,XX[70] 		GTG seizures at 10y {880}
RC/W-
20-
p13q13/
1-7

male/
9y

PBL

?dn

46,XY,r(20)(p13q13)

 GTG DD, seizures {1862  - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13/
1-8

male/
7y

PBL

?dn

46,XY,r(20)(p13q13)

dynamic mosaicism:

46,XY,r(20)[14]/46,XY[33]/45,XY,-20[3] 		GTG DD, seizures {1892  - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-1

male/
14y

PBL

?dn

 46,XY,r(20)(p13q13.3) GTG DD, growth retardation, microcephaly, seizures {799; 1853  - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-2

male/
~0.5y

PBL

?dn

46,XY,r(20)(p13q13.3)
dynamic mosaicism: 46,XY,r(20)[93]/45,XY,-20[7]

telomeres lost 		GTG
FISH
 		DD, growth retardation, microcephaly, seizures {800}
RC/W-
20-
p13q13.3/
1-3

n.a./
n.a.

PBL

?dn

 46,XN,r(20)(p13q13) GTG
 		seizures {805}
literature not accessible
RC/W-
20-
p13q13.3/
1-4

n.a./
~2.25y

PBL

?dn

 46,XN,r(20)(p13q13) GTG
 		seizures {813}
literature not accessible
RC/W-
20-
p13q13.3/
1-5

female/
3y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[26]/46,XX[4] 		GTG DD, seizures {807; 808, case 1}
RC/W-
20-
p13q13.3/
1-6

female/
4y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[10]/45,XX,-20[2]/ 46,XX,dr(20)[1]/46,XX[87] 		GTG seizures at 4y; afterwards DD {814, case 3}
RC/W-
20-
p13q13.3/
1-7

male/
~1y

PBL

?dn

 46,XY,r(20)(p13q13.3) GTG DD, seizures {820}
RC/W-
20-
p13q13.3/
1-8

male/
12y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[90]/46,XY,dr(20)[4]/

46,XX,var(20)[6] 		GTG DD, seizures {822}
RC/W-
20-
p13q13.3/
1-9

male/
8y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[2]/46,XY[28] 		GTG seizures at 8y; afterwards DD {825}
RC/W-
20-
p13q13.3/
1-10

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[11]/46,XX[9] 		GTG growth retardation, seizures at 6y; afterwards DD {862}
RC/W-
20-
p13q13.3/
1-11

male/
3y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[23]/46,XY[25] 		GTG seizures at 3y; afterwards DD {866}
literature not accessible
RC/W-
20-
p13q13.3/
1-12

female/
child

PBL

dn

46,XX,r(20)(p13q13.3)

 GTG seizures, DD {869}
literature not accessible
RC/W-
20-
p13q13.3/
1-13

female/
7y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[23]/46,XX[6]/45,XX,-20[1] 		GTG seizures at 7y; afterwards DD {875}
RC/W-
20-
p13q13.3/
1-14

female/
15y

PBL

?dn

46,XX,r(20)(p13q13.3)

Subtelomer 20pter and 20qter present

acc. to aCGH no loss in 20

but in 16p13.11 		GTG seizures at 15y; afterwards DD {877}
RC/W-
20-
p13q13.3/
1-15

male/
9y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[12]/46,XX[88] 		GTG DD, seizures {884, case 1}
RC/W-
20-
p13q13.3/
1-16

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[15]/46,XX[35] 		GTG seizures, DD {873}
RC/W-
20-
p13q13.3/
1-17

female/
11y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[34%] 		GTG microcephaly, growth retardation, seizures at 12y; DD at 11y {871}
RC/W-
20-
p13q13.3/
1-18

male/
2.75y

PBL

?dn

46,XX,r(20)(p13q13.3)

 GTG seizures  {899}
RC/W-
20-
p13q13.3/
1-19

male/
2y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[29]/46,XY, dr(20)[1] 		GTG DD, DYS  {1860 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-20

male/
~1.5y

PBL

?dn

46,XY,r(20)(p13q13.3)

 GTG DD, seizures {1877 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-21

female/
44y

PBL

?dn

46,XX,r(20)(p13q13.3)

 GTG seizures since 9 y of age, DD {1893 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-22

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[28]/46,XX[27]/46,XX,dr(20)[2]/45,XX,-20[3] 		GTG seizures {870; 1898 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-23

male/
postnatal

PBL

?dn

46,XY,r(20)(p13q13.3)
dynamic mosaicism:

46,XY,r(20)[50]/46,XY[50]

GTG DD, DYS, hypotonia {1913, case  9 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-24

male/
5y

PBL

?dn

46,XY,r(20)(p13q13.3)

 GTG DD, seizures   {1914 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-25

male/
9y

PBL

?dn

46,XY,r(20)(p13q13.3)
dynamic mosaicism:

46,XY,r(20)[15]/46,XY[85]

GTG DD, seizures {1931 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
1-26

female/
38y

PBL

?dn

46,XX,r(20)(p13q13.3)

dynamic mosaicism:

46,XX,r(20)[56]/46,XX[44] 		GTG DD, seizures {1934 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
1-1

male/
~2y

PBL

?dn

46,XY,r(20)(p13q13.33)

telomeres lost
 Subtelomer 20pter present and 20qter absent acc. to aCGH in 20q loss; size not provided 		GTG
FISH
aCGH
 		slight DYS, seizures at 2y; afterwards DD {816; 848, case 25}
RC/W-
20-
p13q13.33/
1-2 to 1-3

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p13q13.33)
dynamic mosaicism:

46,XN,r(20)[85]/45,XN,-20[5]/ 46,XX,dr(20)[10]

Subtelomer 20pter present and 20qter absent

acc. to aCGH in 20q loss; size not provided 		GTG
FISH
aCGH
 		seizures  {848, cases 23 and 28}
RC/W-
20-
p13q13.33/
1-4

male/
postnatal

PBL

?dn

46,XY,r(20)(p13q13.33)

telomeres lost
 Subtelomer 20pter present and 20qter absent acc. to aCGH in 20qter ~1.5Mb loss 		GTG
FISH
aCGH
 		DYS, seizures, DD {1911, 1 case - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
1-5

male/
~0.8y

PBL

dn

46,XY,r(20)(p13q13.33)

20qter absent acc. to aCGH in 20qter ~1.7Mb loss 		GTG
aCGH
 		 seizures, DD {1940 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
2-1

female/

3y

PBL

?dn

46,XX,r(20)(p13q13.33)

acc. to aCGH in 20p ~0.7Mb loss 		GTG
aCGH
 		seizures {859}
RC/W-
20-
p13q13.33/
3-1

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p13->q13.33::q13.32->q13.33)
dynamic mosaicism:

46,XN,r(20)/45,XN,-20/46,XX,var(20)

Subtelomer 20pter and 20qter absent

acc. to aCGH in 20p ~0.2Mb and in 20q ~0.8Mb loss and dup in q13.32q13.33 fo ~9Mb 		GTG
FISH
aCGH
 		seizures {848, case 27}
RC/W-
20-
p13q13.33/
4-1

male/
9y

PBL

dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism: 46,XY,r(20)[16]/46,XY[14] 		GTG growth retardation, seizures {803; 804, case 2}
RC/W-
20-
p13q13.33/
4-2

female/
14y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[4]/46,XX[16] 		GTG   seizures {804, case 1}
RC/W-
20-
p13q13.33/
4-3

female/
21y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[5]/46,XX[15] 		GTG   seizures {804, case 3}
RC/W-
20-
p13q13.33/
4-4

female/
28y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[8]/46,XX[12] 		GTG   seizures {804, case 4}
RC/W-
20-
p13q13.33/
4-5

female/
31y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[13]/46,XX[36] 		GTG   seizures {804, case 5}
RC/W-
20-
p13q13.33/
4-6

male/
25y

PBL

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism:
46,XY,r(20)[3]/46,XY[27] 		GTG   seizures {804, case 6}
RC/W-
20-
p13q13.33/
4-7a and 4-7b

male/
6y

PBL

mat

46,XY,r(20)(p13q13.33)

dynamic mosaicism:
46,XY,r(20)[83]/46,XY[17]

telomere(s) present
acc. to aCGH no loss

GTG

FISH
aCGH
 		growth retardation, seizures, as in mother {806, cases 1, 2; 844; 863, cases 4-5}
RC/W-
20-
p13q13.33/
4-8

male/
21y

PBL
fibros

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism:
46,XY,r(20)[13]/46,XY[67]

telomere(s) present
acc. to aCGH no loss
GTG
aCGH
 		seizures, onset at 21y {806, case 3; 844; 863 case 6}
RC/W-
20-
p13q13.33/
4-9

female/
36y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[13]/46,XX[84]/45,XX,-20[3] 		GTG seizures at 17y; afterwards DD {817}
RC/W-
20-
p13q13.33/
4-10

female/
5y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[15-40]/46,XX[60-85]

Subtelomer pter and qter present; telomeres present 		GTG
FISH 		seizures at 5y; afterwards DD; hypotonia, scoliosis {835}
RC/W-
20-
p13q13.33/
4-11

female/
5y

PBL

?dn

46,XX,r(20)(p13q13.33) dynamic mosaicism:
46,XX,r(20)[~20]/46,XX,dr(20)[8]/

46,XX[~65]/45,XX,-20[7]

Subtelomer 20pter and 20qter present 		GTG
FISH 		seizures at 5y; afterwards DD {839}
RC/W-
20-
p13q13.33/
4-12

female/
4y

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[26]/46,XX[74]

acc. to aCGH no loss 		GTG
aCGH 		seizures at 4y; afterwards DD {842, case 3; 844}
RC/W-
20-
p13q13.33/
4-13

female/
12y

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[~40]/46,XX[~60]

acc. to aCGH no loss 		GTG
aCGH 		seizures  {844, case BV}
RC/W-
20-
p13q13.33/
4-14

female/
10y

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[34]/46,XX[66]
in fibros only in 5% r(20)

acc. to aCGH no loss 		GTG
aCGH 		seizures {844, case PE}
RC/W-
20-
p13q13.33/
4-15

female/
prenatal

AF

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[30]/46,XX[70]

acc. to aCGH no loss 		GTG
aCGH 		n.a. {844, case MM}
RC/W-
20-
p13q13.33/
4-16

female/
5y

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)
dynamic mosaicism:

46,XX,r(20)[34]/46,XX[66]

In fibros r(20) in 8%

Subtelomer 20pter and 20qter present 		GTG
FISH

seizures at 5y; afterwards DD;

dispigmentation

scoliosis 		{846}
RC/W-
20-
p13q13.33/
4-17 to 4-39

n.a./
n.a.

PBL

?dn

46,XN,r(20)(p13q13.33)
dynamic mosaicism:

46,XN,r(20)[3.7-90]/46,XN[10-96.3]/45,XX,-20[0-16]

Subtelomer 20pter and 20qter present

acc. to aCGH no loss

GTG

FISH

aCGG 		  seizures {848, cases 1 to 21, 24}
RC/W-
20-
p13q13.33/
4-40

female/
n.a.

PBL
fibros

?dn

46,XX,r(20)(p13q13.33)
dynamic mosaicism:

46,XX,r(20)[45]/45,XX,-20[90]

Subtelomer 20pter and 20qter present 		GTG
aCGH 		seizures  {595, case 34}
RC/W-
20-
p13q13.33/
4-41

male/
13y

PBL

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism:

46,XY,r(20)[15]/46,XY[35]

Subtelomer 20pter and 20qter present 		GTG
FISH 		seizures, DD {854}
RC/W-
20-
p13q13.33/
4-42

female/
15y

PBL

dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[40]/46,XX[20]

Acc. to aCGH dup in 20q11.21q22.21 (unclear if in r(20) or #20 		GTG
FISH
aCGH
 		seizures {858; 1641, case 3; 1886, 1894, 1895 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-43

female/
5y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[22]/46,XX[60]

Subtelomer 20pter and 20qter present 		GTG
FISH 		seizures at 5y; afterwards DD {860, case 1}
RC/W-
20-
p13q13.33/
4-44

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[73]/46,XX[27]

acc. to aCGH no loss

GTG
aCGH
 		seizures, DD {891, case 2}
RC/W-
20-
p13q13.33/
4-45

female/
9y

PBL

?dn

46,XX,r(20)(p13q13.33)

Subtelomer 20pter and 20qter present 		GTG
FISH
 		seizures at 9y {881}
RC/W-
20-
p13q13.33/
4-46

female/
6y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[84]/46,XX[16] 		GTG
aCGH
 		seizures, DD {882, case 1}
RC/W-
20-
p13q13.33/
4-47

female/
2y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[70]/46,XX[30] 		GTG
aCGH
 		seizures {882, case 2}
RC/W-
20-
p13q13.33/
4-48

female/
12y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[20]/46,XX[78]/45,XX,-20[2] 		GTG
aCGH
 		seizures {882, case 3}
RC/W-
20-
p13q13.33/
4-49

female/
13y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[30]/46,XX[70] 		GTG
aCGH
 		seizures {882, case 4}
RC/W-
20-
p13q13.33/
4-50

female/
9y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism

 GTG
aCGH
 		seizures {882, case 5}
RC/W-
20-
p13q13.33/
4-51

female/
4y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XY,r(20)[44]/46,XY[56] 		GTG
aCGH
 		seizures {882, case 6}
RC/W-
20-
p13q13.33/
4-52a and 4-52b

female/
2y

PBL

mat

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[50]/46,XX[50] 		GTG
MolGen
aCGH

seizures at 2y.

mother with seizures at 20y and r(20) in 12% of PBL 		{883; 1909  - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-53

male/
7y

PBL

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism:

46,XY,r(20)[62]/46,XY[38] 		GTG seizures at 7y; afterwards DD {872}
RC/W-
20-
p13q13.33/
4-54

male/
9y

PBL

?dn

46,XY,r(20)(p13q13.33)

acc. to aCGH no loss 		GTG
aCGH 		seizures, DD {891, case 1}
RC/W-
20-
p13q13.33/
4-55 to 1-57

n.a./
postnatal

PBL

dn

46,XX,r(20)(p13q13.33)

acc. to aCGH no loss 		GTG
FISH
aCGH
 no details provided {1099, cases 27-30}
RC/W-
20-
p13q13.33/
4-58

male/
19y

PBL

?dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism:

46,XY,r(20)[51]/46,XY[35]/45,XY,-20[4]
acc. to aCGH no loss 		GTG
FISH
aCGH
 seizures, DD {1231}
RC/W-
20-
p13q13.33/
4-59

female/
9y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[7]/46,XX[10]/ 46,XX,dr(20)[1]
 acc. to FISH no loss 		GTG
FISH
 seizures at 9 year - before normal
 {1859 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-60

female/
7y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[50]/46,XX[50]
 acc. to FISH no loss 		GTG
FISH
 seizures at 7 year - before normal
 {1863 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-61

n.a./
postnatal

PBL

?dn

46,XX,r(20)(p13q13.33)

acc. to FISH no loss 		GTG
FISH
 seizures, DD
 {1869 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.3/
4-62

female/
postnatal

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[18]/46,XX[5]
acc. to FISH no loss 		GTG
FISH
 		DD, DYS  {1319, case 6; 1884; 1885 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-63 to 1-64

n.a./
postnatal

PBL

?dn

46,XX,r(20)(p13q13.33)

acc. to FISH no loss 		GTG
FISH
 seizures, DD {1916, 2 cases - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-65

male/
prenatal

AF/ CH/ PBL

dn

46,XY,r(20)(p13q13.33)

dynamic mosaicism:

PBL: 46,XY,r(20)[17]/46,XY[23]
 acc. to aCGH no loss 		GTG
aCGH
 no clincal signs in newborn
 {1921 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-66 to 1-67

male and female/
24y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:
r in 22 or 27% of cells
acc. to FISH no loss 		GTG
FISH
 seizures, DD {1924, 2 cases - provided by Dr. I. Lurie, Maryland, USA; 2113}
RC/W-
20-
p13q13.33/
4-68

female/
17y

PBL

?dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[19]/46,XX[29]/ 46,XX,dr(20)[2]
acc. to FISH no loss 		GTG
 		seizures, DD {1929 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-69 to 4-72

male and female/
postnatal

PBL

?dn

46,XN,r(20)(p13q13.33)
 acc. to WES no loss at 20qter

GTG
WES
 DD, seizures {2013, cases 1 - 4 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
4-73

female/
postnatal

PBL

?dn

46,XX,r(20)(p13q13.33)
 dynamic mosaicism:
46,XX,r(20)/46,XX
acc. to aCGH no loss of material

 GTG
aCGH
 DD, seizures {2121, 1 case}
RC/W-
20-
p13q13.33/
4-74

female/
17y

PBL

?dn

46,XX,r(20)(p13q13.33)
 dynamic mosaicism:
46,XX,r(20)[41]/46,XX[59]
acc. to aCGH no loss of material

 GTG
aCGH
 DD, seizures {2144, case 13}
RC/W-
20-
p13q13.33/
5-1

female/

21y

PBL

dn

46,XX,r(20)(p13q13.33)

dynamic mosaicism:

46,XX,r(20)[50]/46,XX,dr(20)[25]/ 46,XX[25]

Subtelomer 20pter and 20qter absent 		GTG
FISH
 		growth retardation, DYS, seizures at 5y; afterwards DD {836}
RC/W-
20-
p13q13.33/
5-2

n.a./

n.a.

PBL

?dn

46,XN,r(20)(p13q13.33)
dynamic mosaicism:

46,XN,r(20)/45,XN,-20/46,XX,var(20)

Subtelomer 20pter and 20qter absent

acc. to aCGH in 20p ~2.5Mb and in 20q ~0.8Mb loss

GTG

FISH

aCGG 		seizures  {848, case 22}
RC/W-
20-
p13q13.33/
5-3

male/

6y

PBL

?dn

46,XY,r(20)(p13q13.3)

dynamic mosaicism:

46,XY,r(20)[16%]

Subtelomer 20pter and 20qter absent

GTG

FISH

aCGG 		seizures at 6y; afterwards DD {855, case 3}
RC/W-
20-
p13q13.33/
6-1

female/

2.7y

PBL

?dn

46,XX,r(20)(p13->q13.33::q13.33->q13.33)

acc. to aCGH loss of ~1.4Mb in 20q and gain of 0.3Mb in 20q13.33 		GTG
aCGH

seizures,

dispigmentation 		{888; 1933 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p13q13.33/
7-1

female/

13y

PBL

?dn

46,XX,r(20)(p13q13.33)
dynamic mosaicism:

46,XX,r(20)[77]/46,XX[23]

acc. to aCGH in 20p ~1.8Mb loss 		GTG
aCGH

seizures,

dispigmentation 		{847}
RC/W-
20-
p13q13.33/
8-1

n.a./

n.a.

PBL

?dn

46,XN,r(20)(p13q13.33)
dynamic mosaicism:

46,XN,r(20)/45,XN,-20/46,XX,var(20)

Subtelomer 20pter absent and 20qter present

acc. to aCGH in 20p loss; size not provided; and six additional duplications throughout the chromosome 		GTG
FISH
aCGH 		 seizures {848, case 26}
RC/W-
20-
p13q13.33/
9-1

female/

prenatal

AF

?dn

46,XX,r(20)(p13q13.33)
dynamic mosaicism:

46,XX,r(20)[44]/45,XX,-20[6]

acc. to aCGH in 20p ~0.6Mb and in 20q ~0.78Mb loss 		GTG
aCGG 		Maternal anxiety, TOP {849}
RC/W-
20-
p13q13.33/
10-1

n.a./

prenatal

AF

?dn

46,XX,r(20)(p13->q13.33::q13.12->q13.33)

acc. to aCGH loss of ~0.24Mb in 20q and gain of 20.5Mb in 20q 		GTG
aCGH

DYS, heart defect, micrognathia, TOP

 {1902 - provided by Dr. I. Lurie, Maryland, USA}
RC/W-
20-
p12q13.2/
1-1a and 1-1b

female/
~0.8y

PBL

?dn

46,XX,r(20)(p12q13.2)

dynamic mosaicism:
46,XX,r(20)[5-95]/45,XX,-20[5-95] 		GTG twins: DD, growth retardation, DYS, seizures {1195}


                                   Ref 845 – most likely same patients as in 806, 843, 844 and 1869;
                                   Refs 850 and 885 and 1922 and 1927 and 1932 and 1935 =  reviews on r(20)